Association of missense polymorphisms in the Adenomatous polyposis coli gene and colorectal cancer.
Published: 2004
Language: eng
Number of pages: 110
Description: Background. 20% of Colorectal cancer (CRC) patients have a family history of the disease. It has been proposed that missense polymorphisms in the Adenomatous polyposis coli (APC) may contribute to CRC risk.Results. In 39 multiple-polyp CRC patients we identified 3 novel and 2 previously described APC variants. A novel truncating mutation (Y94X) was observed in a single CRC patient with multiple adenomatous polyps. The S 130G (0.3% vs 0.1%, p = 0.625); E1317Q (1.8% vs 1.9%, p = 0.823); and G2502S (4.6% vs 4.9%, p = 0.625) polymorphisms were observed in similar frequencies among CRC cases and controls. The D1822V carriers (homozygous or heterozygous) were less common in CRC cases than in controls (37.6% vs 42.6%, p = 0.029).Methods. To identify missense polymorphisms in the APC gene, we sequenced the entire open-reading frame of APC in 39 CRC patients with >5 synchronous adenomatous polyps. We then determined the frequency of these polymorphisms in 971 CRC patients and 954 healthy population controls.
Notes: Adviser:  Steven Gallinger.

Thesis (M.Sc.)--University of Toronto, 2004.

Electronic version licensed for access by U. of T. users.

Source: Masters Abstracts International, Volume: 42-06, page: 2101.

MICR copy on microfiche (2 microfiches).